Variant (rsID / SNP)

rs200684767

rs200684767 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNB1. Location: chromosome 17, position 7,351,934. Clinical significance in the table: Likely benign.

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Reference-table entries

CHRNB1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:7351934
Cytoband: 17p13.1
HGVS: NM_000747.3(CHRNB1):c.647G>A (p.Arg216Gln)
Allele change: Missense_R216Q

Associated conditions / phenotypes

Congenital myasthenic syndrome 2A

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.